TY - JOUR
T1 - Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy
AU - Ventura, Paolo
AU - Brancaleoni, Valentina
AU - Di Pierro, Elena
AU - Graziadei, Giovanna
AU - Macrì, Annelise
AU - Carmine Guida, Claudio
AU - Nicolli, Annamaria
AU - Rossi, Maria Teresa
AU - Granata, Francesca
AU - Fiorentino, Valeria
AU - Fustinoni, Silvia
AU - Sala, Raffella
AU - Pinton, Piergiacomo Calzavara
AU - Trevisan, Andrea
AU - Marchini, Stefano
AU - Cuoghi, Chiara
AU - Marcacci, Matteo
AU - Corradini, Elena
AU - Sorge, Fiammetta
AU - Aurizi, Caterina
AU - Savino, Maria Grazia
AU - Cappellini, Maria Domenica
AU - Pietrangelo, Antonello
N1 - <p>Copyright:<br/>This record is sourced from MEDLINE/PubMed, a database of the U.S. National Library of Medicine</p>
PY - 2020
Y1 - 2020
N2 - BACKGROUND: Erythropoietic protoporphyria (EPP) is a rare inherited disease associated with heme metabolism, characterized by severe life-long photosensitivity and liver involvement. OBJECTIVE: To provide epidemiological data of EPP in Italy. MATERIALS & METHODS: Prospective/retrospective data of EPP patients were collected by an Italian network of porphyria specialist centres (Gruppo Italiano Porfiria, GrIP) over a 20-year period (1996-2017). RESULTS: In total, 179 patients (79 females) with a clinical and biochemical diagnosis of EPP were assessed, revealing a prevalence of 3.15 cases per million persons and an incidence of 0.13 cases per million persons/year. Incidence significantly increased after 2009 (due to the availability of alfa-melanotide, which effectively limits skin photosensitivity). Mean age at diagnosis was 28 years, with only 22 patients (12.2%) diagnosed ≤10 years old. Gene mutations were assessed in 173 (96.6%) patients; most (164; 91.3%) were FECH mutations on one allele in association with the hypomorphic variant, c.315-48C, on the other (classic EPP), and nine (5.2%) were ALAS2 mutations (X-linked EPP). Only one case of autosomal recessive EPP was observed. Of the 42 different FECH mutations, 15 are novel, three mutations collectively accounted for 45.9% (75/164) of the mutations (c.215dupT [27.2%], c.901_902delTG [11.5%] and c.67 + 5G > A [7.2%]), and frameshift mutations were prevalent (33.3%). A form of light protection was used by 109/179 (60.8%) patients, and 100 (56%) had at least one α-melanotide implant. Three cases of severe acute liver involvement, requiring OLT, were observed. CONCLUSION: These data define, for the first time, the clinical and molecular epidemiology of EPP in Italy.
AB - BACKGROUND: Erythropoietic protoporphyria (EPP) is a rare inherited disease associated with heme metabolism, characterized by severe life-long photosensitivity and liver involvement. OBJECTIVE: To provide epidemiological data of EPP in Italy. MATERIALS & METHODS: Prospective/retrospective data of EPP patients were collected by an Italian network of porphyria specialist centres (Gruppo Italiano Porfiria, GrIP) over a 20-year period (1996-2017). RESULTS: In total, 179 patients (79 females) with a clinical and biochemical diagnosis of EPP were assessed, revealing a prevalence of 3.15 cases per million persons and an incidence of 0.13 cases per million persons/year. Incidence significantly increased after 2009 (due to the availability of alfa-melanotide, which effectively limits skin photosensitivity). Mean age at diagnosis was 28 years, with only 22 patients (12.2%) diagnosed ≤10 years old. Gene mutations were assessed in 173 (96.6%) patients; most (164; 91.3%) were FECH mutations on one allele in association with the hypomorphic variant, c.315-48C, on the other (classic EPP), and nine (5.2%) were ALAS2 mutations (X-linked EPP). Only one case of autosomal recessive EPP was observed. Of the 42 different FECH mutations, 15 are novel, three mutations collectively accounted for 45.9% (75/164) of the mutations (c.215dupT [27.2%], c.901_902delTG [11.5%] and c.67 + 5G > A [7.2%]), and frameshift mutations were prevalent (33.3%). A form of light protection was used by 109/179 (60.8%) patients, and 100 (56%) had at least one α-melanotide implant. Three cases of severe acute liver involvement, requiring OLT, were observed. CONCLUSION: These data define, for the first time, the clinical and molecular epidemiology of EPP in Italy.
KW - cutaneous porphyrias
KW - erythropoietic protoporphyria
KW - ferrochelatase
KW - photodermatosis
KW - protoporphyrin
KW - X-Link EPP
U2 - 10.1684/ejd.2020.3880
DO - 10.1684/ejd.2020.3880
M3 - Article
VL - 30
SP - 532
EP - 540
JO - European Journal of Dermatology
JF - European Journal of Dermatology
SN - 1167-1122
IS - 5
ER -